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Items: 1 to 20 of 63

1.
Dataset from the uniaxial tensile testing of human curly hair fibers under different conditions
Lebogang Mathebela, Rudzani Sigwadi, Tetelo Lekwana, Harry Ngwangwa, Thanyani Pandelani, Fulufhelo Nemavhola
Data Brief. 2024 Feb; 52: 109943. Published online 2023 Dec 12. doi: 10.1016/j.dib.2023.109943
PMCID:
PMC10733091
AbstractArticlePDF–1.4M
2.
Altered hair root gene expression profiles highlight calcium signaling and lipid metabolism pathways to be associated with curly hair initiation and maintenance in Mangalitza pigs
Nadia Khaveh, Kathrin Schachler, Jan Berghöfer, Klaus Jung, Julia Metzger
Front Genet. 2023; 14: 1184015. Published online 2023 Jun 7. doi: 10.3389/fgene.2023.1184015
PMCID:
PMC10282778
AbstractArticlePDF–4.5M
3.
DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
Krista Heliö, Eveliina Brandt, Satu Vaara, Sini Weckström, Liisa Harjama, Riina Kandolin, Johanna Järviö, Katariina Hannula-Jouppi, Tiina Heliö, Miia Holmström, Juha W. Koskenvuo
Front Cardiovasc Med. 2023; 10: 1130903. Published online 2023 Mar 15. doi: 10.3389/fcvm.2023.1130903
PMCID:
PMC10050721
AbstractArticlePDF–14M
4.
Tracing selection signatures in the pig genome gives evidence for selective pressures on a unique curly hair phenotype in Mangalitza
Kathrin Schachler, Ottmar Distl, Julia Metzger
Sci Rep. 2020; 10: 22142. Published online 2020 Dec 17. doi: 10.1038/s41598-020-79037-z
PMCID:
PMC7747725
AbstractArticlePDF–1.1M
5.
The what, why and how of curly hair: a review
Elsabe Cloete, Nonhlanhla P. Khumalo, Malebogo N. Ngoepe
Proc Math Phys Eng Sci. 2019 Nov; 475(2231): 20190516. Published online 2019 Nov 20. doi: 10.1098/rspa.2019.0516
PMCID:
PMC6894537
AbstractArticlePDF–1.1M
6.
Rare Variant of Ankyloblepharon-ectodermal Defect-cleft Lip/Cleft Palate Syndrome: Curly Hair-ankyloblepharon-nail Disease Syndrome
Ajay Chopra, Debdeep Mitra, Renu Kandpal, Reetu Agarwal
Int J Trichology. 2018 Jan-Feb; 10(1): 17–20. doi: 10.4103/ijt.ijt_55_17
PMCID:
PMC5803846
AbstractArticle
7.
A missense variant in the coil1A domain of the keratin 25 gene is associated with the dominant curly hair coat trait (Crd) in horse
Caroline Morgenthaler, Mathieu Diribarne, Aurélien Capitan, Rachel Legendre, Romain Saintilan, Maïlys Gilles, Diane Esquerré, Rytis Juras, Anas Khanshour, Laurent Schibler, Gus Cothran
Genet Sel Evol. 2017; 49: 85. Published online 2017 Nov 15. doi: 10.1186/s12711-017-0359-5
PMCID:
PMC5686958
AbstractArticlePDF–2.2M
8.
Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism.
I M Buntincx, B Van Overmeire, K Desager, J Van Hauwaert
J Med Genet. 1993 May; 30(5): 427–428. doi: 10.1136/jmg.30.5.427
PMCID:
PMC1016385
SummaryPage BrowsePDF–494K
9.
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype
J. Robert Harkness, Huw B. Thomas, Jill E. Urquhart, Peter Jamieson, Genomics England Research Consortium, Raymond T. O'Keefe, Helen M. Kingston, Charulata Deshpande, William G. Newman
Eur J Med Genet. 2024 Feb; 67: 104907. doi: 10.1016/j.ejmg.2023.104907
PMCID:
PMC10918460
AbstractArticle
10.
Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
Tao Zhang, Hongwu Yao, Hejun Wang, Tingting Sui
Cells. 2023 Jul; 12(13): 1781. Published online 2023 Jul 5. doi: 10.3390/cells12131781
PMCID:
PMC10341341
AbstractArticlePDF–2.7M
11.
Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Ali Reza Ronagh, Mohammad Ghafouri, Nejat Mahdieh, Pouria Mohammadi, Zahra Rezaei
Mol Genet Genomic Med. 2023 Jun; 11(6): e2159. Published online 2023 Mar 3. doi: 10.1002/mgg3.2159
PMCID:
PMC10265088
AbstractArticlePDF–7.3M
12.
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features
Diane D. Shao, Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill, Richard S. Smith, Amar J. Majmundar, Najim Ameziane, Jennifer E. Neil, Edward Yang, Amal Al Tenaiji, Saumya S. Jamuar, Thorsten M. Schlaeger, Muna Al-Saffar, Iris Hovel, Aisha Al-Shamsi, Lina Basel-Salmon, Achiya Z. Amir, Lariza M. Rento, Jiin Ying Lim, Indra Ganesan, Shirlee Shril, Gilad Evrony, A. James Barkovich, Peter Bauer, Friedhelm Hildebrandt, Min Dong, Guntram Borck, Christian Beetz, Lihadh Al-Gazali, Wafaa Eyaid, Christopher A. Walsh
Genet Med. 2021; 23(6): 1158–1162. Published online 2021 Feb 2. doi: 10.1038/s41436-021-01097-x
PMCID:
PMC8187145
AbstractArticlePDF–1.4M
13.
Expression Profiling and Functional Characterization of miR-26a and miR-130a in Regulating Zhongwei Goat Hair Development via the TGF-β/SMAD Pathway
Yangyang Ding, Xianglan Xue, Zhanfa Liu, Yong Ye, Ping Xiao, Yabin Pu, Weijun Guan, Joram Mwashigadi Mwacharo, Yuehui Ma, Qianjun Zhao
Int J Mol Sci. 2020 Jul; 21(14): 5076. Published online 2020 Jul 18. doi: 10.3390/ijms21145076
PMCID:
PMC7404276
AbstractArticlePDF–5.4M
14.
Leucine-rich repeat containing 8A (LRRC8A)–dependent volume-regulated anion channel activity is dispensable for T-cell development and function
Craig D. Platt, Janet Chou, Patrick Houlihan, Yousef R. Badran, Lalit Kumar, Wayne Bainter, P. Luigi Poliani, Carlos J. Perez, Sharon Y. R. Dent, David E. Clapham, Fernando Benavides, Raif S. Geha
J Allergy Clin Immunol. Author manuscript; available in PMC 2018 Oct 3.
Published in final edited form as: J Allergy Clin Immunol. 2017 Dec; 140(6): 1651–1659.e1. Published online 2017 Feb 10. doi: 10.1016/j.jaci.2016.12.974
PMCID:
PMC6170198
AbstractArticlePDF–957K
15.
Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Chihiro Endo, Todd A. Johnson, Ryoko Morino, Kazuyuki Nakazono, Shigeo Kamitsuji, Masanori Akita, Maiko Kawajiri, Tatsuya Yamasaki, Azusa Kami, Yuria Hoshi, Asami Tada, Kenichi Ishikawa, Maaya Hine, Miki Kobayashi, Nami Kurume, Yuichiro Tsunemi, Naoyuki Kamatani, Makoto Kawashima
Sci Rep. 2018; 8: 8974. Published online 2018 Jun 12. doi: 10.1038/s41598-018-27145-2
PMCID:
PMC5997657
AbstractArticlePDF–5.3M
16.
Integrated miRNA-mRNA analysis reveals regulatory pathways underlying the curly fleece trait in Chinese tan sheep
Yufang Liu, Jibin Zhang, Qiao Xu, Xiaolong Kang, Kejun Wang, Keliang Wu, Meiying Fang
BMC Genomics. 2018; 19: 360. Published online 2018 May 11. doi: 10.1186/s12864-018-4736-4
PMCID:
PMC5948824
AbstractArticlePDF–1.4M
17.
An epistatic effect of KRT25 on SP6 is involved in curly coat in horses
Annika Thomer, Maren Gottschalk, Anna Christmann, Fanny Naccache, Klaus Jung, Marion Hewicker-Trautwein, Ottmar Distl, Julia Metzger
Sci Rep. 2018; 8: 6374. Published online 2018 Apr 23. doi: 10.1038/s41598-018-24865-3
PMCID:
PMC5913262
AbstractArticlePDF–4.5M
18.
Pili canaliculi as manifestation of giant axonal neuropathy
Hiram Larangeira de Almeida Jr., Gilberto Garcias, Ricardo Marques e Silva, Stela Laner Batista, Fernanda Pasetto
An Bras Dermatol. 2016 Sep-Oct; 91(5 Suppl 1): 125–127. doi: 10.1590/abd1806-4841.20164677
PMCID:
PMC5325017
AbstractArticlePDF–585K
19.
An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences
Karen W. Gripp, Katia Sol-Church, Patroula Smpokou, Gail E. Graham, David A. Stevenson, Heather Hanson, David H. Viskochil, Laura C. Baker, Bridget Russo, Nick Gardner, Deborah L. Stabley, Verena Kolbe, Georg Rosenberger
Am J Med Genet A. Author manuscript; available in PMC 2016 Apr 13.
Published in final edited form as: Am J Med Genet A. 2015 Sep; 167A(9): 2085–2097. Published online 2015 Apr 25. doi: 10.1002/ajmg.a.37128
PMCID:
PMC4830354
AbstractArticlePDF–1.0M
20.
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver
Novella Rapini, Roberta Lidano, Silvia Pietrosanti, Giuseppina Vitiello, Chiara Grimaldi, Diana Postorivo, Anna Maria Nardone, Francesca Del Bufalo, Francesco Brancati, Maria Luisa Manca Bitti
Ital J Pediatr. 2014; 40: 5. Published online 2014 Jan 16. doi: 10.1186/1824-7288-40-5
PMCID:
PMC3896849
AbstractArticlePDF–1.6M

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